Results 151 to 160 of about 42,806 (266)

Improvement of Intestinal Pseudo-Obstruction by Total Parenteral Nutrition in a Young Woman With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Case Report. [PDF]

Cureus, 2023
Sakamoto N, Hamada S, Takahashi H, Satou R, Suzuki M, Maeno T.   +5 more
europepmc   +1 more source

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion [PDF]

, 2001
A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated plasma insulin concentrations.
Aynsley-Green, A, Berger, R, Clayton, PT, Datta, V, Eaton, S, Edginton, M, Hussain, K, Krywawych, S, Malingre, HEM, van den Berg, IET   +9 more
core  

Review Article: Targeting Peroxisome Proliferator‐Activated Receptors in Primary Biliary Cholangitis

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 9, Page 1215-1235, May 2026.
Peroxisome proliferator‐activated receptor (PPAR) agonists have emerged as important second‐line treatments in primary biliary cholangitis, with profiles influenced by different selectivity for α‐, δ‐ and γ‐isoforms. PPAR‐α and PPAR‐δ agonism improve cholestasis, with inflammation reduced via all isoforms. PPAR‐δ agonism also reduces pruritus.
Jörn M. Schattenberg, Jesus M. Banales, Gideon Hirschfield, Palak Trivedi, Edward E. Cable, Charles A. McWherter, Andrew N. Billin, Daria B. Crittenden, Grant Budas   +8 more
wiley   +1 more source

First case of schizophrenia and OCD in TK2-related mitochondrial DNA depletion myopathy: a case report

BMC Psychiatry
Introduction Mitochondria generate energy in the form of adenosine triphosphate (ATP), integral in regulating cellular activities. Pathogenic variants in mitochondrial DNA occur when excess free radicals are produced during abnormal electron transport ...
Shu Hui Ngoh, Alakananda Gudi
doaj   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort. [PDF]

J Neurol, 2022
Montano V, Lopriore P, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Primiano G, Valentino ML, Bortolani S, Marchet S, Ricci G, Modenese A, Cotti Piccinelli S, Risi B, Meneri M, Arena IG, Siciliano G, Mancuso M.   +23 more
europepmc   +1 more source

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, Volume 299, Issue 5, Page 587-603, May 2026.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Clinical and pathological characteristics of mitochondrial myopathy and the screening value of simplified serum lactic acid exercise test

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To analyze clinical and pathological characteristics of mitochondrial myopathy (MM) in 15 patients, and to study the value of simplified serum lactic acid exercise test in the screening of mitochondrial myopathy.
Xiao-fen ZHU, Ji DING, Xiao-qi ZHU, Yuan-yuan LI, Ai-lian DU   +4 more
doaj  

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. [PDF]

Cells, 2022
Nasca A, Legati A, Meneri M, Ermert ME, Frascarelli C, Zanetti N, Garbellini M, Comi GP, Catania A, Lamperti C, Ronchi D, Ghezzi D.   +11 more
europepmc   +1 more source

The Conjugated Bile Acids Profile Suggests a Novel Liver‐Muscle Axis Associated With Sarcopenia in Chronic Liver Disease

Liver International, Volume 46, Issue 5, May 2026.
ABSTRACT Background Liver‐related sarcopenia is a devastating systemic complication of chronic liver disease (CLD) driven by mechanisms extending beyond nutritional deficiency. However, the role of liver‐derived humoral factors remains unclear. We utilised a unique cohort of human skeletal muscle biopsies to test the hypothesis that serum conjugated ...
Motoh Iwasa, Akiko Eguchi, Motoyuki Kohjima, Teruo Miyazaki, Hiroshi Kitamura, Yuko Takami, Naoki Yamashita, Mina Tempaku, Kiyora Izuoka, Yoshinao Kobayashi, Yoshiyuki Takei, Akira Honda, Hayato Nakagawa, Tadashi Ikegami, Makoto Nakamuta, Jun Okabe, Aldo J. Montano‐Loza   +16 more
wiley   +1 more source